Article

Rare germline structural variants increase risk for pediatric solid tumors

2024-04-29

Abstract excerpt

<h4> A bstract </h4> Pediatric solid tumors are rare malignancies that represent a leading cause of death by disease among children in developed countries. The early age-of-onset of these tumors suggests that germline genetic factors are involved, yet conventional germline testing for short coding variants in established predisposition genes only identifies pathogenic events in 10-15% of patients. Here, we exam...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9cd7bb94-3c15-5e5b-b0fe-e7d3a4449fac
DOI: 10.1101/2024.04.27.591484

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rare germline structural variants increase risk for pediatric solid tumorsDOI 10.1101/2024.04.27.591484Read

Rare germline structural variants increase risk for pediatric solid tumors.Semantic proximity Read

Complex structural variation is prevalent and highly pathogenic in pediatric solid tumorsSemantic proximity Read

Somatic structural variation signatures in pediatric brain tumorsSemantic proximity Read

Genetic Predisposition to Solid Pediatric CancersSemantic proximity Read

Germline Functional Variants Contribute to Somatic Mutation and Outcomes in NeuroblastomaSemantic proximity Read

Germline genetic landscape of pediatric central nervous system tumors.Semantic proximity Read

The genomic landscape of pediatric cancers: Implications for diagnosis and treatmentSemantic proximity Read

The landscape of structural variation in pediatric cancerSemantic proximity Read

Germline Whole-Genome Sequencing in Early-Onset Pediatric Solid Tumors Implicates Novel Risk Factors.Semantic proximity Read

Somatic structural variation signatures in pediatric brain tumors.Semantic proximity Read

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish studySemantic proximity Read

Somatic structural variation targets neurodevelopmental genes and identifies <i>SHANK2</i> as a tumor suppressor in neuroblastomaSemantic proximity Read